I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and clinical focus on the causes of intellectual and physical disability.
I completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 I have worked as a consultant clinical geneticist at Victorian Clinical Genetics Services (VCGS) and as a Research Group leader at Murdoch Children’s Research Institute (MCRI). From 2009 to 2016 I was Director of Victorian Clinical Genetics Services.
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and...
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and clinical focus on the causes of intellectual and physical disability.
I completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 I have worked as a consultant clinical geneticist at Victorian Clinical Genetics Services (VCGS) and as a Research Group leader at Murdoch Children’s Research Institute (MCRI). From 2009 to 2016 I was Director of Victorian Clinical Genetics Services.
Top Publications
Hui, L, Pynaker, C, Kennedy, J, Lewis, S, Amor, DJ, Walker, SP, Halliday, J.
Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study.
BMC Pediatrics
21(1)
:
447
2021
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Frewer, V, Gilchrist, CP, Collins, SE, Williams, K, Seal, ML, Leventer, RJ, Amor, DJ.
A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder.
Journal of Child Psychology and Psychiatry
62(11)
:
1339 -1352
2021
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Park, HA, Neumeyer, S, Michailidou, K, Bolla, MK, Wang, Q, Dennis, J, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, et al.
Mendelian randomisation study of smoking exposure in relation to breast cancer risk.
British Journal of Cancer
125(8)
:
1135 -1145
2021
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Stutterd, CA, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, TY, Archer, J, Leventer, RJ, Amor, DJ, et al.
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
American Journal of Medical Genetics Part A
185(10)
:
2941 -2950
2021
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Ma, A, Grigg, JR, Flaherty, M, Smith, J, Minoche, AE, Cowley, MJ, Nash, BM, Ho, G, Gayagay, T, Lai, T, et al.
Genome sequencing in congenital cataracts improves diagnostic yield.
Human Mutation
42(9)
:
1173 -1183
2021
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